Variant analysis, under clinical control.
Vicuña investigates the evidence. Noxia carries each case from VCF to signed-out report. Clinicians make every final decision.
- Evidence-linked classifications
- Clinicians approve
- Auditable from VCF to report
AI Agent
Vicuña
Your genomics copilot
A conversational AI agent purpose-built for variant analysis. Vicuña guides clinicians through complex genomic data with natural language, integrating clinical evidence and the latest literature.
- ✓ Evidence-driven, guideline-compliant classification
Aggregates clinical evidence from ClinVar, gnomAD, literature, and functional data — aligned with ACMG/AMP guidelines. - ✓ Integrated tool & database access
Query annotation sources, external databases, and specialized analysis tools directly within the conversation. - ✓ Human-in-the-loop case summarization
Distill complex multi-variant cases into structured clinical summaries ready for review — with clinician oversight at every step.
Vicuña Assistant
What is the clinical significance of BRCA2 c.5946delT?
BRCA2 c.5946delT (p.Ser1982ArgfsTer22) is classified as Pathogenic by ClinVar. This frameshift variant in exon 11 disrupts the DNA repair domain. Associated with hereditary breast-ovarian cancer syndrome. 47 submitters support this classification.
Show me the ACMG criteria breakdown.
Two instruments. One principle: clinicians decide.
From evidence exploration to signed-out report, clinical judgment stays in control.
Platform
Noxia
The clinical workspace for every genetic test.
Noxia brings patient phenotype, sequencing data, evidence, review, and reporting into one continuous clinical record—from case intake to signed-out report.
Create the case
Bring in patient context, test metadata, and sequencing files directly or through LIMS
Connect phenotype & sequencing
Normalize phenotypes to HPO and use them to prioritize findings from VCF data
Analyze & collaborate
Review annotations, evidence, and classifications with comments, assignments, and role-based access
Approve & sign out
Complete clinician review, generate the report, e-sign, and preserve the audit trail
WES-2024-0847
Female · 4 years · Trio exome
Clinical phenotype
3 HPO- Early-onset seizures HP:0001250
- Developmental delay HP:0001263
- Hypotonia HP:0001252
Sequencing data
- WES
- Trio WES · VCF annotated
- Variants
- 24,816 → 18
- Status
- Phenotype match complete
Prioritized finding: KCNQ2
A clinical workspace for the whole case.
Follow phenotype and sequencing data as they become a prioritized finding, collaborative review, and signed-out report—with AI assisting and clinicians deciding.
WES-2024-0847
Case intake
- Patient context
- Female · 4 years · Trio exome
- Sequencing data
- Trio WES · VCF annotated
> Open WES-2024-0847.
Case opened in Noxia. Patient context and the exome VCF are ready; phenotype capture is incomplete.
Shall we structure the clinical features first?
> Yes, review the phenotype
Get Started
Keep every decision explainable.
See how evidence, clinician approval, and a complete audit trail stay connected from VCF to signed-out report.
Prefer to copy the address? support@viknox.com